7 September is World Duchenne Awareness Day
7 September is World Duchenne Awareness Day. This year the European Parliament officially granted its patronage to World Duchenne Awareness Day. This follows the United Nations’ official designation of 7 September as World Duchenne Awareness Day, the UN’s first formal acknowledgment of a day dedicated to a rare condition.
On 7 September the World Duchenne Organisation will launch a documentary that portrays the lives of people living with Duchenne muscular dystrophy across the globe, it will share their journeys, challenges and successes, and captures the resilience and determination of the Duchenne community. People are encouraged to share it with their wider communities.
Facts on DMD
Each year, one in 5,000 newborn boys in the world is affected by Duchenne muscular dystrophy (DMD).
The average age of diagnosis for DMD is 4.5 years.
People with Becker muscular dystrophy (BMD) may show signs later in life when they become adults, although some show signs at a young age. Symptoms are also less severe in BMD.
DMD / BMD is caused by a mutation on the X-chromosome, which is why it mainly affects males.
The mutation is in the dystrophin gene. Dystrophin is responsible for keeping muscle cells intact.
First walking becomes difficult, then other motor functions follow and ultimately it affects the ability to breathe, as well as the function of the heart.
Dystrophin also supports brain function; therefore, some people experience learning and behavioural difficulties.
Conference recordings
The Duchenne Care Conference was held online over two days in May. This provides a platform for sharing knowledge and promoting collaboration. Recordings of the presentations are available here.
Parent Project Muscular Dystrophy held their 30th Annual Conference in June. This three-day meeting was filled with scientific presentations and discussions around care, clinical trials and quality of life. Recordings from the conference sessions are available here.
DMD research news
Translarna™ (ataluren)
Translarna (also known as ataluren) is a treatment for people with Duchenne muscular dystrophy with a nonsense genetic mutation, manufactured by pharmaceutical company PTC Therapeutics.
Translarna was conditionally approved in the European Union (EU) in 2014, to treat individuals aged 2 and older who retain the ability to walk. The terms of a conditional licence mean there is an obligation to confirm effectiveness as more data becomes available.
In January 2024, the Committee for Medicinal Products for Human Use (CHMP) recommended not renewing the conditional marketing authorisation for Translarna, based on its evaluation of all available data. Patient organisations and clinical networks throughout Europe mobilised together to express their support for maintaining Translarna™ (ataluren) as a medical option in the European Union. As a result, the European Commission (EC) did not adopt the recommendation and asked the CHMP to further consider the totality of evidence, including data from patient registries and real-world evidence, in a re-evaluation.
The outcome of this re-evaluation was announced on 28 June, and the CHMP recommended again, non-renewal of the conditional marketing authorisation of Translarna. Some boys in Ireland are taking this drug and we acknowledge the emotional, mental and physical impact removing the only therapeutic treatment available, may have on them and their families.
PTC Therapeutics plan to request re-examination of the CHMP opinion. During this time the marketing authorisation for Translarna remains in effect. Based on the timeline of the re-examination procedure and the subsequent review of the opinion by the European Commission, PTC Therapeutics expect Translarna to remain on the market through the end of 2024 even if the negative opinion is approved.
Agamree ® (vamorolone)
AGAMREE (vamorolone) is a modified corticosteroid medicine that reduces inflammation. AGAMREE aims to retain the beneficial anti-inflammatory and muscle-strengthening aspects of corticosteroids, while decreasing some of the undesirable side effects (bone fragility, stunted growth, insulin resistance, mood changes, delay of puberty and others). Last October, AGAMREE was approved in the European Union (EU) for the treatment of Duchenne muscular dystrophy (DMD) in individuals aged 4 years and older, regardless of their underlying mutation and ambulatory status.
This makes AGAMREE the first and only medicinal product to have received full approval in the EU and the first authorised treatment in both the US and EU to treat people with DMD.
MDI has been in contact with Santhera Pharmaceuticals and the chosen distributor for supplying this drug in Ireland, who are preparing to make a submission to the HSE for reimbursement.